Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy due to OPA1 Mutations

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Identifier 20110208_nanos_posters_004
Title Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy due to OPA1 Mutations
Creator Yu-Wai-Man, Patrick; Atawan, Alaa; Bailie, Maura; Chinnery, Patrick Francis; Griffiths, Philip Guy
Subject Autosomal Dominant Optic Atrophy; OPA1; Mitochondrial DNA; Optical Coherence Tomography; Retinal Ganglion Cells
Description Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder and about 60% of patients harbor pathogenic mutations in the OPA1 gene. Although the pathological hallmark of DOA is the preferential loss of retinal ganglion cells (RGC), up to 20% of patients with OPA1 mutations will develop a more severe disease variant (DOA+) with additional neuromuscular features.
Date 2011-02-08
Language eng
Format application/pdf
Format Creation application/pdf
Type Text
Source 2011 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS 2011: Poster Presentations
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2011. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6md25hs
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Setname ehsl_novel_nam
ID 181758
Reference URL https://collections.lib.utah.edu/ark:/87278/s6md25hs
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